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Pharmacogenomics - A Genetic Approach to Drug Therapy and Development

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A special issue of Pharmaceuticals (ISSN 1424-8247). This special issue belongs to the section "Pharmacology".

Deadline for manuscript submissions: closed (31 March 2024) | Viewed by 4893

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Special Issue Editor

Dr. Mohammad Mobashir

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Guest Editor

Karolinska Institutet, Stockholm, Sweden
Interests: systems pharmacology; personalized medicine; clinical immunology and biochemistry; systems biology; network biology

Special Issue Information

Dear Colleagues,

Drug interactions are better understood with the application of pharmacogenomics, the most well-known study now used in medical sciences. Regarding therapies and drug development, it has a significant impact. The large-scale implementation of pharmacogenomics is required in the area of therapeutic development. The main focus is on how genes and a complex gene system affect how the body reacts to medications. According to the most recent developments in the field of clinical therapeutics, new biomarkers have been identified that make it simpler to identify a group of patients who are more or less likely to respond to specific treatments. It aims to improve customized treatment by delivering the appropriate drug at the appropriate dose at the appropriate time, in addition to ensuring the proper prescriptions of the drug.A combination of genetic, environmental, and patient features that have an impact on the pharmacokinetics and/or pharmacodynamics of medications results in inter-individual variance in drug response. Drug development, illness susceptibility, and therapy efficacy are all impacted by pharmacogenomics.

With this Special Issue, we aim to present research/review articles, commentaries, etc. that could serve as potential sources of new application/methodology/approach implementation in the field of pharmacogenomics. The topics of this Special Issue may be experimental or theoretical.

Dr. Mohammad Mobashir
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Pharmaceuticals is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

pharmacogenomics
genetic approach
drug therapy
drug development
personalized medicine/therapy
human diseases

Published Papers (4 papers)

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Research

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11 pages, 509 KiB

Open AccessArticle

Interactive Associations between PPARγ and PPARGC1A and Bisphosphonate-Related Osteonecrosis of the Jaw in Patients with Osteoporosis

by Jung Sun Kim, Jin Woo Kim, Jeong Yee, Sun Jong Kim, Jee Eun Chung and Hye Sun Gwak

Pharmaceuticals 2023, 16(7), 1035; https://doi.org/10.3390/ph16071035 - 21 Jul 2023

Cited by 1 | Viewed by 804

Abstract

Bisphosphonate-related osteonecrosis of the jaw (BRONJ) is a rare but severe adverse effect that can occur as a result of bisphosphonate treatment. This study aimed to examine the relationship between PPARγ and PPARGC1A polymorphisms and the BRONJ development in female osteoporosis patients undergoing bisphosphonate treatment. We prospectively conducted this nested case–control study at the Ewha Womans University Mokdong Hospital between 2014 and 2018. We assessed five single-nucleotide polymorphisms (SNPs) of PPARγ and six SNPs of PPARGC1A and performed a multivariable logistic regression analysis to determine the independent risk factors for developing BRONJ. There were a total of 123 patients included in this study and 56 patients (45.5%) developed BRONJ. In the univariate analysis, PPARGC1A rs2946385 and rs10020457 polymorphisms were significantly associated with BRONJ (p = 0.034, p = 0.020, respectively), although the results were not statistically significant in the multivariable analysis. Patients with the combined genotypes of GG in both PPARγ rs1151999 and PPARGC1A rs2946385 showed a 3.03-fold higher risk of BRONJ compared to individuals with other genotype combinations after adjusting for confounders (95% confidence interval (CI): 1.01–9.11). Old age (≥70 years) and duration of bisphosphonate use (≥60 months) increased the risk of BRONJ. The area under the receiver operating characteristic curve for the predicted probability was 0.78 (95% CI: 0.69–0.87, p < 0.001), demonstrating a satisfactory level of discriminatory power. Our study elucidated that PPARγ and PPARGC1A polymorphisms were interactively associated with BRONJ development. These results have potential implications for tailoring personalized treatments for females undergoing bisphosphonate therapy for osteoporosis. Full article

(This article belongs to the Special Issue Pharmacogenomics - A Genetic Approach to Drug Therapy and Development)

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14 pages, 1207 KiB

Open AccessArticle

CYP2D6 Genotype and Pharmacovigilance Impact on Autism Spectrum Disorder: A Naturalistic Study with Extreme Phenotype Analysis

by Pura Ballester, Cristina Espadas, Susana Almenara, Jordi Barrachina, Javier Muriel, Enrique Ramos, Natalia Toral, César Belda and Ana M. Peiró

Pharmaceuticals 2023, 16(7), 954; https://doi.org/10.3390/ph16070954 - 03 Jul 2023

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Abstract

The long-term use of psychopharmacology medications in autism spectrum disorder (ASD) hitherto remains controversial due to a lack of evidence about safety and tolerability. In this regard, genotyping the metabolizing enzyme cytochrome P450 (CYP) 2D6, especially its extreme phenotypes, could help to prevent drug-related adverse reactions or adverse events (AEs). There are several medications warranting CYP2D6 screening that are consumed by people with ASD, such as risperidone and aripiprazole to name a few. A naturalistic observational study was carried out in participants with ASD to analyze the influence of the CYP2D6 phenotype in drug tolerability using a local pharmacovigilance system created for this study. In this case, AEs were identified from participants’ electronic health records (EHRs) and paper registries. Other variables were collected: socio-demographic information, comorbidities, and psychopharmacology prescriptions (polypharmacy defined as ≥4 simultaneous prescriptions) and doses. The genetic analysis included allelic discrimination (CYP2D6*1, *2, *3, *4, *5, *6, *10, *17, and *41) and copy number variations. All of these were used to determine theoretical phenotypes of the metabolic profiles: poor (PM); intermediate (IM); normal (NM); and ultra-rapid (UM). Sex differences were analyzed. A total of 71 participants (30 ± 10 years old, 82% male, 45% CYP2D6 NM phenotype (32 participants)) with a median of 3 (IQR 2–4) comorbidities per person, mainly urinary incontinence (32%) and constipation (22%), were included. CYP2D6 UM showed the highest rate of polypharmacy, whilst, IM participants had the highest rates of neurological and psychiatric AEs, even worse if a CYP2D6 inhibitor drug was prescribed simultaneously. CYP2D6 pharmacogenomics and the monitoring of new antipsychotic prescriptions may make a difference in medication safety in adults with ASD. Particularly in those with psychopharmacology polymedication, it can help with AE avoidance and understanding. Full article

(This article belongs to the Special Issue Pharmacogenomics - A Genetic Approach to Drug Therapy and Development)

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Review

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20 pages, 978 KiB

Open AccessFeature PaperReview

Genetic Variations and Antibiotic-Related Adverse Events

by Nicola Principi, Kyriakoula Petropulacos and Susanna Esposito

Pharmaceuticals 2024, 17(3), 331; https://doi.org/10.3390/ph17030331 - 02 Mar 2024

Viewed by 965

Abstract

Antibiotic-related adverse events are common in both adults and children, and knowledge of the factors that favor the development of antibiotic-related adverse events is essential to limit their occurrence and severity. Genetics can condition the development of antibiotic-related adverse events, and the screening of patients with supposed or demonstrated specific genetic mutations may reduce drug-related adverse events. This narrative review discusses which genetic variations may influence the risk of antibiotic-related adverse events and which conclusions can be applied to clinical practice. An analysis of the literature showed that defined associations between genetic variations and specific adverse events are very few and that, at the moment, none of them have led to the implementation of a systematic screening process for patients that must be treated with a given antibiotic in order to select those at risk of specific adverse events. On the other hand, in most of the cases, more than one variation is implicated in the determination of adverse events, and this can be a limitation in planning a systematic screening. Moreover, presently, the methods used to establish whether a patient carries a “dangerous” genetic mutation require too much time and waiting for the result of the test can be deleterious for those patients urgently requiring therapy. Further studies are needed to definitively confirm which genetic variations are responsible for an increased risk of a well-defined adverse event. Full article

(This article belongs to the Special Issue Pharmacogenomics - A Genetic Approach to Drug Therapy and Development)

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16 pages, 1001 KiB

Open AccessReview

Impact of Pharmacogenomics in Clinical Practice

by Nicola Principi, Kyriakoula Petropulacos and Susanna Esposito

Pharmaceuticals 2023, 16(11), 1596; https://doi.org/10.3390/ph16111596 - 13 Nov 2023

Cited by 3 | Viewed by 1608

Abstract

Polymorphisms of genes encoding drug metabolizing enzymes and transporters can significantly modify pharmacokinetics, and this can be associated with significant differences in drug efficacy, safety, and tolerability. Moreover, genetic variants of some components of the immune system can explain clinically relevant drug-related adverse events. However, the implementation of drug dose individualization based on pharmacogenomics remains scarce. In this narrative review, the impact of genetic variations on the disposition, safety, and tolerability of the most commonly prescribed drugs is reported. Moreover, reasons for poor implementation of pharmacogenomics in everyday clinical settings are discussed. The literature analysis showed that knowledge of how genetic variations can modify the effectiveness, safety, and tolerability of a drug can lead to the adjustment of usually recommended drug dosages, improve effectiveness, and reduce drug-related adverse events. Despite some efforts to introduce pharmacogenomics in clinical practice, presently very few centers routinely use genetic tests as a guide for drug prescription. The education of health care professionals seems critical to keep pace with the rapidly evolving field of pharmacogenomics. Moreover, multimodal algorithms that incorporate both clinical and genetic factors in drug prescribing could significantly help in this regard. Obviously, further studies which definitively establish which genetic variations play a role in conditioning drug effectiveness and safety are needed. Many problems must be solved, but the advantages for human health fully justify all the efforts. Full article

(This article belongs to the Special Issue Pharmacogenomics - A Genetic Approach to Drug Therapy and Development)

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